Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.
Harvey
Jj
J
Cancer Research, UK Molecular and Population Genetics Laboratory, London Research Institute, London, UK.
Clark
Sk
S
Hyer
W
W
Hadzic
N
N
Tomlinson
Ipm
I
Hinds
R
R
D011125:Adenomatous Polyposis Coli / Q000453:epidemiology / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation / Q000235:genetics*; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012189:Retrospective Studies
D017931:DNA Primers